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Immune Conference

Immune Conference. By NTUH Ped.R2 鄭嘉琪 /VS. 楊曜旭 / P 江伯倫 , 周正成. C.C. Abnormal liver function for 2+ years. Brief Hx. 1. Birth history: G1P1, GA: 42wks, NSD, BW: 3780gm, PROM (-), DOIC (-), perinatal insult (-), neonatal hyperbilirubinemia (-)

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Immune Conference

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  1. Immune Conference By NTUH Ped.R2鄭嘉琪/VS.楊曜旭 /P 江伯倫, 周正成

  2. C.C Abnormal liver function for 2+ years

  3. Brief Hx 1. Birth history: G1P1, GA: 42wks, NSD, BW: 3780gm, PROM (-), DOIC (-), perinatal insult (-), neonatal hyperbilirubinemia (-) 2. Vaccination: As scheduled, Hibx3. 3. G & D: BW: 43kg ( 25-50 th percentile) BH: 144cm ( 3-10 th percentile) DMS: WNL 4. Maternal history: n.p 5. Previous history: n.p 6. Family history: no contributory

  4. P.I. • 1993 (4y/o) in高醫hospital ‧Several episodes of GTC ‧Hypocalcemia Hypoparathyroidism(PTH<8pg/ml) -Ca. carbonate 5# qd and calcitriol 5# qd • 1997 (8y/o) ‧Frequent infections (HSV, oral thrush, submandibular cellulitis); pneumonia r/o sepsis -> admitted 高醫hospital • T-cell immune deficiency was found

  5. P.I. • 2000 ( 11 Y/O) -> Admitted to高醫hospital • Hypoparathyroidism & hypocalcemia • T3,T4, TSH, ACTH and cortisol: WNL • T cell & B cell number: WNL • T cell & B cell function: WNL • Total T cell:74.2; Active T cell:27.29 • Total B cell: 20.42 • CD4 36.13; CD8:28.79

  6. P.I. • 2000 ( 11 Y/O) • Impaired liver function GOT/GPT: 97/104; Bil(T/D): 1.53/0.49 ‧ Gallstone and medullary nephrocalcinosis • Anemia: IDA or chronic dx related • 2002.4(13y/o) ->小港 hospital • Abnormal liver function • Amnonia:195;GOT/GPT:403/411; Bil(T/D):6.79/5.63; • ALP:1464; γ-GT:67

  7. Brief hx Summary 13 y/o 7 m/o boy : (1)GTC-> Hypocalcemia-Hypoparathyroidism since 4 y/o,1993, s/p Ca and Vit D3 supplement (2)Chronic mucocutaneous candidiasis (oral thrush, onychomycosis), viral infection (3) Vitiligo, enamel hypoplasia, nail dystrophy (4)Anemia, cause to be determined since 8y/o, 1997 (5)Impaired liver function since 11y/o, 2000 (6) Gallstones and nephrocalcinosis since 11y/o, 2000

  8. Our Work Up

  9. Hypocalcemia • 24hr Ca2+ excretion: 1.75mg/kg/day • 24hr CCR: 145.2 cc/min/1.73m2 • Urinary Ca/Cr ratio: 0.09 • 24hr Mg2+excretion: 0.05mmol/kg/day • % TRP: 98.2% • iPTH < 1 pg/ml

  10. D/D of Hypocalcemia • Parathyroid hormone (PTH) deficiency • PTH receptor defects (pseudohypoparathyroidism) • Ca2+ -sensing receptor activating mutation •  Magnesium deficiency • Exogenous inorganic phosphate excess • Vitamin D deficiency

  11. D/D of PTH deficiency * Aplasia or hypoplasia of parathyroids  & DiGeorge syndrome ;Velocardiofacial syndrome * Surgery * Autoimmune parathyroiditis & Autoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy (APECED)(APS type I)       & Wilson disease *  Idiopathic hypoparathyroidism

  12. R/O DiGeorge syndrome • Parathyroid glands aplasia/ hypoplasia → hypoparathyroidism (+) • Thymus aplasia/ hypoplasia (?) → T-cell immunity deficiency (+) ‧Congenital heart disease (atrial and ventricular septal defects) (-) ‧Anomalies of the great vessels (-) ‧Facial anomalies: (-) ‧Chromosome: normal

  13. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)(APS type I) • Chronic mucocutaneous candidiasis (CMC) • Hypoparathyroidism • Addison’s disease • Other associated disorders

  14. CMC- Immunodeficiency ? • T.B cell amount( 07/05 ): WNL IgG, IgA, IgM: WNL T cell: 82; B cell: 9, NK cell:7; CD8:32, CD4:44; Native23; Memory:21. • Mitogen stimulation test (proliferation ): normal • Candida delayed skin test: (-) Induration< 1 cm at 48 hour & 72 hour • T cell function to candida: decreased • B-cell function: blood type: O ; Anti-A Titer, Anti-B Titer: WNL

  15. APECEDOther associated disorders

  16. APECED-Other Endocrinopathy w/u • Cortisol, ACTH: WNL • Anti-microsomal Ab, thyroglobulin Ab: (-) T3, T4, free T4, hs TSH:WNL • FSH, LH, and testosterone: WNL • HbA1C, AC sugar: WNL • Gastric parietal cell Ab (-) • Anti-parathyroid Ab: (-)

  17. D/D of chronic hepatitis • Chronic viral hepatitis HAV, HBV, HCV, EBV, CMV infection evidence • Drug induced hepatitis • Metabolic disorder associated with chronic liver dx • Autoimmune hepatitis elevated liver enzyme, ANA(+), biopsy: chronic hepatitis, negative viral infection

  18. Chronic Hepatitis w/u • Liver span: 2fb below RCM • Anti-HAV; HbsAg, AntiHbs-Ag;Anti-HCV(-) • EBV: no recent infection • CMV IgM, IgG: (-) • Ceruloplasmin : WNL • Elevated liver enzyme • Autoimmune hepatitis: anti-smooth muscle Ab(-) and ANA (+) • Liver echo: increased echogenicity, gallstone.

  19. Chronic hepatitis Piece-meal necrosis Limiting plate disruption Enlarged portal area

  20. Work up Summary at NTUH • Definite diagnosis * Hypoparathyroidism * Nephrocalcinosis * Chronic mucocutaneous candidiasis (CMC) * T cell immunodeficiency * Ectodermal dystrophy: vitiligo, enamel hypoplasia, nail dystrophy * Chronic hepatitis (autoimmune hepatitis) * Anemia • Combined hypoparathyroidism,CMC,and chronic hepatitis in OMIM -> Tentative Dx: APECED

  21. Discussion

  22. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)(APS type I) • Chronic mucocutaneous candidiasis (70%, <5 y/o) • Hypoparathyroidism (90%, >3 y/o) • Addison’s disease (90%, > 6 y/o) • Other associated disorders • AIRE(autoimmune regulator) gene mutation

  23. Chronic mucocutaneous candidiasis Oral thrush, onychomycosis without disseminated candidiasis (cause ?)

  24. In our patient • Autoimmune hepatitis: Steroid full dose for autoimmune process -> f/u liver function and immune profile at OPD • CMC: Give topical anti-candida drug • Hypoparathyroidism: Keep Ca and vit D3, nutrition education of Ca & P balance for prevention of nephrocalcinosis progression -> check level and f/u renal echo per year • Educate the patient about possible disorders in the future, like Addison’s disease and adequate mx

  25. OPD f/u

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